Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Клучни зборови
Апстракт
Опис
Smith-Lemli- Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by a deficiency of the enzyme 3beta-hydroxysterol delta(7)- reductase (DHCR7). DHCR7 is the final enzyme in the sterol synthetic pathway and converts 7- dehydrocholesterol (7DHC) to cholesterol. This results in low cholesterol and elevated 7DHC levels. SLOS has a wide phenotypic spectrum. Mildly affected individuals may have subtle dysmorphic features along with learning and behavioral disabilities. Typical clinical manifestations include microcephaly, ptosis, anteversion of the nostrils, micrognathia, high arched or cleft palate, congenital heart defects, clinodactyly, post- axial polydactyly, and 2-3 toe syndactyly. More severely affected individuals have multiple congenital anomalies, may be miscarried, stillborn, or die within the first few weeks of life.
Dietary cholesterol supplementation in children with SLOS is reported to improve behavior, growth and nutritional status. Based upon observational studies, the behavioral changes reported with dietary cholesterol supplementation occur rapidly and appear to be reversible. Parental reports of improved behavior could be influenced by a placebo effect. Thus, we are proposing a blinded study to compare behavioral changes while the patient is on cholesterol supplementation (egg yolk) versus no cholesterol supplementation (egg substitute).
The objectives of this study are:
1. To quantitatively evaluate behavior, in a blinded study, of SLOS children on and off dietary cholesterol supplementation.
2. To quantitatively evaluate behavior in SLOS children treated with egg yolk compared to synthetic dietary cholesterol supplementation.
Completed study has been published. Tierney, E., Conley, S.K., Goodwin, H., Porter, F.D. (2010) Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz Syndrome. Am. J. Med. Genet. Part A. 152A: 91-95 PMID: 20014133
Датуми
Последен пат проверено: | 11/30/2015 |
Прво доставено: | 06/14/2005 |
Поднесено е проценето запишување: | 06/14/2005 |
Прво објавено: | 06/15/2005 |
Последното ажурирање е доставено: | 12/23/2015 |
Последно ажурирање објавено: | 01/28/2016 |
Датум на први доставени резултати: | 03/18/2010 |
Датум на први доставени резултати за КК: | 03/02/2014 |
Датум на објавување на првите резултати: | 04/08/2014 |
Крај на датумот на започнување на студијата: | 05/31/2005 |
Проценет датум на примарно завршување: | 01/31/2009 |
Проценет датум на завршување на студијата: | 01/31/2009 |
Состојба или болест
Интервенција / третман
Dietary Supplement: Egg yolk preparation with cholesterol
Dietary Supplement: Egg yolk preparation without cholesterol
Фаза
Групи за раце
Рака | Интервенција / третман |
---|---|
Experimental: Egg yolk preparation with cholesterol Dietary cholesterol in the form of liquid egg yolk | Dietary Supplement: Egg yolk preparation with cholesterol Egg yolk preparation with cholesterol |
Placebo Comparator: Egg yolk preparation without cholesterol No dietary cholesterol supplementation (egg substitute) Papetti Foods "Better 'n Eggs" egg substitute | Dietary Supplement: Egg yolk preparation without cholesterol Placebo control. Egg substitute, without cholesterol |
Критериуми за подобност
Возраст подобни за студии | 4 Years До 4 Years |
Полови квалификувани за студии | All |
Прифаќа здрави волонтери | Да |
Критериуми | Inclusion 1. This study will include pediatric patients, ages 4-17 years old with a biochemical diagnosis of Smith-Lemli-Opitz Syndrome (SLOS). 2. Only mild and classical patients will be enrolled. 3. This study will be open to include SLOS patients regardless of whether or not they are participating in another NIH protocol. Exclusion 1. Patients with a history of egg allergy or intolerance will be excluded from this study. 2. Subjects must be well enough to be in a home setting. 3. Patients participating in our simvastatin protocol (03-CH-3225) will be excluded from this study. |
Исход
Мерки на примарниот исход
1. Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). [2 weeks]
Секундарни мерки на исходот
1. ABC Irritability Sub-scale [2 weeks]
2. ABC Lethargy Sub-scale [2 weeks]
3. ABC Stereotypy Sub-scale [2 weeks]
4. ABC Inappropriate Behavior Sub-scale [2 weeks]
5. ABC Total Score [2 weeks]